Browsing by Author "Kaygusuz, Emrah"
Now showing items 1-2 of 2
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
Kaygusuz, Emrah; Khayyat, AIA; Abdullah, U; Budde, BS; Asif, M; Ahmed, I; Makhdoom, EUH; Sur-Erdem, I; Baig, JM; Khan, MMA; Toliat, MR; Becker, C; Anwar, H; Iqbal, M; Fischer, S; Jameel, M; Sher, M; Tariq, M; Malik, NA; Hassan, MJ; Thiele, H; Tinschert, S; Eichinger, L; Höning, S; Baig, SM (Wiley, 2021)Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously ... -
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
Makhdoom, Ehtisham Ul Haq; Waseem, Syeda Seema; Iqbal, Maria; Abdullah, Uzma; Hussain, Ghulam; Asif, Maria; Budde, Birgit; Höhne, Wolfgang; Tinschert, Sigrid; Saadi, Saadia Maryam; Yousaf, Hammad; Ali, Zafar; Fatima, Ambrin; Kaygusuz, Emrah; Khan, Ayaz; Jameel, Muhammad; Khan, Sheraz; Tariq, Muhammad; Anjum, Iram; Altmüller, Janine; Thiele, Holger; Höning, Stefan (MDPI, 2021)Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable ...
